S6F (p.Ser6Phe) variant of PRRT2 (Q7Z6L0)
S6F (p.Ser6Phe) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Episodic kinesigenic dyskinesia. The record also includes structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- rs2543330649
- ClinGen CA395476996
- ClinVar RCV003761169
- ClinVar RCV005602084
- Uncertain significance
- not provided; Episodic kinesigenic dyskinesia
- Missense
- ClinVar: Uncertain significance (not provided; Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available